HOXA4
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Summary
HOXA4 (homeobox A4, HGNC:5105) is a protein-coding gene on chromosome 7p15.2, encoding Homeobox protein Hox-A4 (Q00056). Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation.
Source: NCBI Gene 3201 — RefSeq curated summary.
At a glance
- Gene–disease (curated): microtia with meatal atresia and conductive deafness (Limited, GenCC)
- GWAS associations: 2
- Clinical variants (ClinVar): 6 total
- MANE Select transcript:
NM_002141
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:5105 |
| Approved symbol | HOXA4 |
| Name | homeobox A4 |
| Location | 7p15.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000197576 |
| Ensembl biotype | protein_coding |
| OMIM | 142953 |
| Entrez | 3201 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 3 protein_coding
ENST00000360046, ENST00000511914, ENST00000610970
RefSeq mRNA: 1 — MANE Select: NM_002141
NM_002141
CCDS: CCDS5405
Canonical transcript exons
ENST00000360046 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000674258 | 27130118 | 27130757 |
| ENSE00003892562 | 27128525 | 27129571 |
Expression profiles
Bgee: expression breadth ubiquitous, 111 present calls, max score 92.87.
FANTOM5 (CAGE): breadth broad, TPM avg 2.0178 / max 56.2160, expressed in 703 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 83285 | 0.6932 | 335 |
| 83280 | 0.5121 | 292 |
| 83283 | 0.2792 | 142 |
| 83279 | 0.2629 | 147 |
| 83282 | 0.1280 | 63 |
| 83281 | 0.0904 | 25 |
| 83284 | 0.0520 | 18 |
Top tissues by expression
124 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| esophagogastric junction muscularis propria | UBERON:0035841 | 92.87 | gold quality |
| mucosa of stomach | UBERON:0001199 | 92.49 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 92.31 | gold quality |
| lower esophagus | UBERON:0013473 | 92.27 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 90.99 | gold quality |
| esophagus | UBERON:0001043 | 87.57 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 87.13 | gold quality |
| fallopian tube | UBERON:0003889 | 86.71 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 85.38 | gold quality |
| left uterine tube | UBERON:0001303 | 85.02 | gold quality |
| right uterine tube | UBERON:0001302 | 85.00 | gold quality |
| gastrocnemius | UBERON:0001388 | 84.73 | gold quality |
| right lung | UBERON:0002167 | 84.31 | gold quality |
| metanephros cortex | UBERON:0010533 | 83.93 | gold quality |
| omental fat pad | UBERON:0010414 | 83.83 | gold quality |
| muscle of leg | UBERON:0001383 | 83.79 | gold quality |
| esophagus mucosa | UBERON:0002469 | 83.58 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 82.34 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 81.75 | gold quality |
| fundus of stomach | UBERON:0001160 | 81.25 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 81.19 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 80.71 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 80.66 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 80.58 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 80.38 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 80.22 | gold quality |
| right adrenal gland | UBERON:0001233 | 80.10 | gold quality |
| cortex of kidney | UBERON:0001225 | 79.85 | gold quality |
| lung | UBERON:0002048 | 79.80 | gold quality |
| left adrenal gland | UBERON:0001234 | 79.63 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.55 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
5 targets.
| Target | Regulation |
|---|---|
| HOXA4 | |
| HOXA5 | Activation |
| ITGB1 | Activation |
| TH | Unknown |
| TTF1 |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA1496.1 | HOXA4 | HOX |
| MA1496.2 | HOXA4 | HOX |
JASPAR matrix evidence (PMIDs): PMID:7901228
Upstream regulators (CollecTRI, top): HOXA1, HOXA4, HOXA5, PDX1, RARA, SP1, TFAP2A
miRNA regulators (miRDB)
70 targeting HOXA4, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-1255A | 99.74 | 68.09 | 744 |
| HSA-MIR-1255B-5P | 99.74 | 68.16 | 741 |
| HSA-MIR-6745 | 99.74 | 65.33 | 1321 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-466 | 99.67 | 70.85 | 2863 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-6733-3P | 99.54 | 67.80 | 1281 |
| HSA-MIR-7159-5P | 99.53 | 72.12 | 2472 |
| HSA-MIR-409-3P | 99.50 | 66.33 | 1192 |
| HSA-MIR-6740-3P | 99.48 | 68.49 | 1392 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-582-5P | 99.47 | 70.79 | 2635 |
| HSA-MIR-302A-5P | 99.39 | 68.21 | 1913 |
Literature-anchored findings (GeneRIF, showing 22)
- upregulated significantly in acute myeloid leukemia patients with a white blood cell count higher than 30 x 10(9)/L cells. (PMID:12031912)
- aberrant DNA methylation may have a major role in the control of HOXA4 gene expression in chronic lymphocytic leukemia (PMID:16688227)
- analysis of the role of deregulated PcG genes in acute myeloid leukemia, and the downstream PcG targets HOXA4, HOXA9 and MEIS1 (PMID:18410541)
- combination of low HOXA4 and low MEIS1 gene expression is a favourable predictor for outcome in all AML patients and that the expression levels are governed by the methylation state of these genes. (PMID:19563517)
- Results confirm that HOXA4 inhibits cell motility, show that it suppresses cell spreading and filopodia formation while enhancing cell-cell adhesion, and suggest a role for beta1 integrin in mediating these changes. (PMID:19723874)
- Studies suggest that HOXA4, HOXA5 and HOXB4 provide the spatial information needed to restrict the response to signals from the notochord, and not up regulated in pancreatic cancer. (PMID:21546695)
- HOXA4 showed nuclear & perinuclear staining in endothelial & smooth muscle cells in aorta. Spatial variation in expression in human aortas persisted into adulthood. Downregulation of HOXA4 expression was associated with abdominal aortic aneurysm. (PMID:21627813)
- promoter hypermethylation of HOXA4 gene could be an epigenetic mechanism mediating IM resistance in CML patients. (PMID:23484077)
- The NK AML patients with NPM1 mutations exhibited elevated HOXA4 methylation and expression levels of HOXA5 and MEIS1 compared with the NPM1 wildtype patients. (PMID:25585874)
- HOXA4 increases short-term repopulation to higher levels than HOXB4, which may involve Notch signaling to induce self-renewal of primitive hematopoietic cells (PMID:26166023)
- Overexpression of HOXA4 and HOXA9 contributes to self-renewal and overpopulation of stem cells in colorectal cancers. (PMID:28464221)
- HOXA4 may play a role in regulating human growth by epigenetic mechanisms. (PMID:29146936)
- HOXA4/HOXB3 gene expression-based risk score may be useful for prognostic risk stratification and warrants prospective validation in HGSOC patients. (PMID:29402501)
- these data suggest that HOXA4 is a potential diagnostic and prognostic marker in lung cancer, and its overexpression could inhibit lung cancer progression in part by promoting GSK3beta transcription. (PMID:29700285)
- This study evaluated the methylation level and gene expression of HOXA4 and IGF1, which showed increased DNA methylation and decreased expression in breast cancer. HOXA4 and IGF1 are promising biomarkers for the early detection of breast cancer. (PMID:30203578)
- The results indicated that completely different sets of transcription factors coregulate HOXA4 and HOXD10 (but not HOXA9) and their expression-correlated genes. (PMID:30552679)
- Aberrant DNA methylation at HOXA4 and HOXA5 genes are associated with resistance to imatinib mesylate among chronic myeloid leukemia patients. (PMID:32721103)
- Epigenome-wide analysis reveals functional modulators of drug sensitivity and post-treatment survival in chronic lymphocytic leukaemia. (PMID:33082556)
- MiR-150 Attenuates Maladaptive Cardiac Remodeling Mediated by Long Noncoding RNA MIAT and Directly Represses Profibrotic Hoxa4. (PMID:35000421)
- Expression Landscape and Functional Roles of HOXA4 and HOXA5 in Lung Adenocarcinoma. (PMID:35370463)
- High expression of HOXA4 in patients with glioma indicates unfavorable clinical outcomes. (PMID:35852388)
- lncRNA HOTAIRM1 Activated by HOXA4 Drives HUVEC Proliferation Through Direct Interaction with Protein Partner HSPA5. (PMID:37898994)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Hoxa4 | ENSMUSG00000000942 |
| rattus_norvegicus | Hoxa4 | ENSRNOG00000027365 |
Paralogs (42): HOXA11 (ENSG00000005073), HOXC8 (ENSG00000037965), HOXA1 (ENSG00000105991), HOXA2 (ENSG00000105996), HOXA3 (ENSG00000105997), HOXA5 (ENSG00000106004), HOXA6 (ENSG00000106006), HOXA13 (ENSG00000106031), TLX1 (ENSG00000107807), HOXB6 (ENSG00000108511), TLX2 (ENSG00000115297), HOXB8 (ENSG00000120068), HOXB5 (ENSG00000120075), HOXB3 (ENSG00000120093), HOXB1 (ENSG00000120094), HOXA7 (ENSG00000122592), HOXC13 (ENSG00000123364), HOXC11 (ENSG00000123388), HOXC12 (ENSG00000123407), HOXD1 (ENSG00000128645), HOXD3 (ENSG00000128652), HOXD9 (ENSG00000128709), HOXD10 (ENSG00000128710), HOXD11 (ENSG00000128713), HOXD13 (ENSG00000128714), PDX1 (ENSG00000139515), HOXB13 (ENSG00000159184), TLX3 (ENSG00000164438), HOXD4 (ENSG00000170166), HOXD12 (ENSG00000170178), HOXB9 (ENSG00000170689), HOXC5 (ENSG00000172789), HOXB2 (ENSG00000173917), HOXD8 (ENSG00000175879), GSX2 (ENSG00000180613), HOXC9 (ENSG00000180806), HOXC10 (ENSG00000180818), HOXB4 (ENSG00000182742), HOXC6 (ENSG00000197757), HOXC4 (ENSG00000198353)
Protein
Protein identifiers
Homeobox protein Hox-A4 — Q00056 (reviewed: Q00056)
Alternative names: Homeobox protein Hox-1.4, Homeobox protein Hox-1D
All UniProt accessions (2): Q00056, H0YHX3
UniProt curated annotations — full annotation on UniProt →
Function. Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds to sites in the 5’-flanking sequence of its coding region with various affinities. The consensus sequences of the high and low affinity binding sites are 5’-TAATGA[CG]-3’ and 5’-CTAATTTT-3'.
Subcellular location. Nucleus.
Tissue specificity. Embryonic nervous system.
Similarity. Belongs to the Antp homeobox family. Deformed subfamily.
RefSeq proteins (1): NP_002132* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001356 | HD | Domain |
| IPR001827 | Homeobox_Antennapedia_CS | Conserved_site |
| IPR009057 | Homeodomain-like_sf | Homologous_superfamily |
| IPR017970 | Homeobox_CS | Conserved_site |
| IPR017995 | Homeobox_antennapedia | Family |
| IPR020479 | HD_metazoa | Domain |
| IPR050609 | Antp_homeobox_Deformed_sf | Family |
Pfam: PF00046
UniProt features (20 total): sequence variant 6, compositionally biased region 5, sequence conflict 3, region of interest 3, chain 1, DNA-binding region 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q00056-F1 | 63.88 | 0.21 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-5617472 | Activation of anterior HOX genes in hindbrain development during early embryogenesis |
MSigDB gene sets: 168 (showing top):
VALK_AML_WITH_FLT3_ITD, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, MULLIGHAN_NPM1_SIGNATURE_3_UP, BENPORATH_ES_WITH_H3K27ME3, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GGGNRMNNYCAT_UNKNOWN, GOBP_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_EMBRYONIC_SKELETAL_SYSTEM_MORPHOGENESIS, NIKOLSKY_OVERCONNECTED_IN_BREAST_CANCER, USF_C, EFC_Q6, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, NKX62_Q2, FREAC3_01, ROSS_LEUKEMIA_WITH_MLL_FUSIONS
GO Biological Process (6): anatomical structure morphogenesis (GO:0009653), anterior/posterior pattern specification (GO:0009952), positive regulation of transcription by RNA polymerase II (GO:0045944), embryonic skeletal system morphogenesis (GO:0048704), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357)
GO Molecular Function (5): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700)
GO Cellular Component (4): chromatin (GO:0000785), nucleoplasm (GO:0005654), nuclear body (GO:0016604), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Activation of HOX genes during differentiation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of transcription by RNA polymerase II | 2 |
| transcription by RNA polymerase II | 2 |
| regulation of DNA-templated transcription | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| cellular anatomical structure | 2 |
| developmental process | 1 |
| anatomical structure development | 1 |
| regionalization | 1 |
| positive regulation of DNA-templated transcription | 1 |
| embryonic organ morphogenesis | 1 |
| skeletal system morphogenesis | 1 |
| embryonic skeletal system development | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| chromosome | 1 |
| nuclear lumen | 1 |
| nucleoplasm | 1 |
| intracellular membraneless organelle | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
866 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HOXA4 | PGAM2 | P15259 | 715 |
| HOXA4 | DNAL4 | O96015 | 712 |
| HOXA4 | PRSS58 | Q8IYP2 | 549 |
| HOXA4 | PRSS1 | P07477 | 511 |
| HOXA4 | NUP98 | P52948 | 509 |
| HOXA4 | GALK1 | P51570 | 493 |
| HOXA4 | HOXD10 | P28358 | 493 |
| HOXA4 | HOXD9 | P28356 | 492 |
| HOXA4 | MEIS1 | O00470 | 462 |
| HOXA4 | ZNF718 | Q3SXZ3 | 435 |
| HOXA4 | DGKK | Q5KSL6 | 421 |
| HOXA4 | HOXA11 | P31270 | 370 |
| HOXA4 | HOXA13 | P31271 | 370 |
| HOXA4 | ITPR1 | Q14643 | 360 |
| HOXA4 | MAMLD1 | Q13495 | 360 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BMI1 | MEIS3P1 | psi-mi:“MI:0914”(association) | 0.350 |
| HOXA4 | RABGAP1L | psi-mi:“MI:0914”(association) | 0.350 |
| RNH1 | DUSP11 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (12): SIRT5 (Affinity Capture-MS), ANKHD1-EIF4EBP3 (Affinity Capture-MS), C4A (Affinity Capture-MS), ANKRD17 (Affinity Capture-MS), SNAPC4 (Affinity Capture-MS), RABGAP1L (Affinity Capture-MS), LRP1 (Affinity Capture-MS), RABGAP1 (Affinity Capture-MS), HOXA4 (Affinity Capture-MS), HOXA4 (Affinity Capture-MS), HOXA4 (Positive Genetic), HOXA4 (Proximity Label-MS)
ESM2 similar proteins: A1YER7, A1YF08, A1YFD8, A1YFY3, A1YG01, A1YG85, A2D4P8, A2D4R4, A2D5I1, A2D649, A2T6H5, A2T6X6, A2T6Z0, A2T748, A2T756, A2T7H5, A2T7J2, P06798, P09016, P09017, P09023, P09024, P10284, P10628, P13378, P14653, P17277, P17483, P17509, P18111, P18864, P23463, P23813, P31259, P31275, P31276, P31277, P31310, P47902, P50207
Diamond homologs: A1YER7, A1YFA5, A1YFD8, A1YFY3, A2D4P8, A2D5I1, A2D5K9, A2D5Y4, A2T6X6, A2T7F3, O13074, O42504, O57374, P02830, P02832, P02833, P04476, P06798, P07548, P09013, P09014, P09016, P09017, P09019, P09020, P09021, P09023, P09024, P09067, P09070, P09071, P09074, P09077, P09079, P09092, P09629, P09630, P10284, P10628, P10629
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
6 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 6 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
302 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:27130113:CGTA:C | donor_loss | 1.0000 |
| 7:27130114:GTACC:G | donor_loss | 1.0000 |
| 7:27130116:A:AC | donor_gain | 1.0000 |
| 7:27130117:C:CA | donor_gain | 1.0000 |
| 7:27130117:CCG:C | donor_gain | 1.0000 |
| 7:27130117:CCGG:C | donor_gain | 1.0000 |
| 7:27129568:TTAA:T | acceptor_gain | 0.9900 |
| 7:27129569:TAA:T | acceptor_gain | 0.9900 |
| 7:27129569:TAAC:T | acceptor_loss | 0.9900 |
| 7:27129570:AA:A | acceptor_gain | 0.9900 |
| 7:27129571:ACTGA:A | acceptor_loss | 0.9900 |
| 7:27129572:C:CA | acceptor_loss | 0.9900 |
| 7:27129572:C:CC | acceptor_gain | 0.9900 |
| 7:27129573:T:C | acceptor_loss | 0.9900 |
| 7:27129581:C:CT | acceptor_gain | 0.9900 |
| 7:27129581:C:T | acceptor_gain | 0.9900 |
| 7:27130116:AC:A | donor_gain | 0.9900 |
| 7:27130116:ACCGG:A | donor_gain | 0.9900 |
| 7:27130117:CC:C | donor_gain | 0.9900 |
| 7:27130117:CCGGC:C | donor_gain | 0.9900 |
| 7:27129517:CGGG:C | acceptor_gain | 0.9800 |
| 7:27129567:GTTAA:G | acceptor_gain | 0.9800 |
| 7:27129582:A:T | acceptor_gain | 0.9800 |
| 7:27129589:C:T | acceptor_gain | 0.9800 |
| 7:27129589:C:CT | acceptor_gain | 0.9700 |
| 7:27129590:G:T | acceptor_gain | 0.9600 |
| 7:27129593:A:C | acceptor_gain | 0.9600 |
| 7:27129603:A:T | acceptor_gain | 0.9600 |
| 7:27129616:C:CT | acceptor_gain | 0.9600 |
| 7:27129516:CCGGG:C | acceptor_gain | 0.9500 |
AlphaMissense
2042 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:27129372:T:A | K272N | 1.000 |
| 7:27129372:T:G | K272N | 1.000 |
| 7:27129373:T:A | K272I | 1.000 |
| 7:27129375:C:A | K271N | 1.000 |
| 7:27129375:C:G | K271N | 1.000 |
| 7:27129377:T:C | K271E | 1.000 |
| 7:27129381:C:A | K269N | 1.000 |
| 7:27129381:C:G | K269N | 1.000 |
| 7:27129383:T:C | K269E | 1.000 |
| 7:27129384:C:A | M268I | 1.000 |
| 7:27129384:C:G | M268I | 1.000 |
| 7:27129384:C:T | M268I | 1.000 |
| 7:27129385:A:C | M268R | 1.000 |
| 7:27129385:A:G | M268T | 1.000 |
| 7:27129385:A:T | M268K | 1.000 |
| 7:27129387:C:A | R267S | 1.000 |
| 7:27129387:C:G | R267S | 1.000 |
| 7:27129388:C:A | R267M | 1.000 |
| 7:27129388:C:G | R267T | 1.000 |
| 7:27129389:T:C | R267G | 1.000 |
| 7:27129391:C:G | R266P | 1.000 |
| 7:27129392:G:C | R266G | 1.000 |
| 7:27129393:G:C | N265K | 1.000 |
| 7:27129393:G:T | N265K | 1.000 |
| 7:27129394:T:A | N265I | 1.000 |
| 7:27129394:T:C | N265S | 1.000 |
| 7:27129394:T:G | N265T | 1.000 |
| 7:27129395:T:C | N265D | 1.000 |
| 7:27129395:T:G | N265H | 1.000 |
| 7:27129396:C:A | Q264H | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1001379085 (7:27128387 T>A), RS1001544497 (7:27128830 A>G), RS1002143143 (7:27128852 T>A), RS1002822603 (7:27132201 G>T), RS1002855171 (7:27131921 A>G), RS1004895213 (7:27132231 C>G), RS1004926223 (7:27131835 C>T), RS1005075726 (7:27130981 C>G,T), RS1006043220 (7:27132696 G>A), RS1006490029 (7:27132361 G>A), RS1006812227 (7:27131207 C>G,T), RS1008933618 (7:27130965 C>A), RS1009233580 (7:27129662 A>G), RS1009733011 (7:27129916 G>A,C), RS1011672119 (7:27131850 T>A)
Disease associations
OMIM: gene MIM:142953 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| microtia with meatal atresia and conductive deafness | Limited | Autosomal dominant |
Mondo (1): microtia with meatal atresia and conductive deafness (MONDO:0009634)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002563_9 | Hypospadias | 1.000000e-11 |
| GCST004343_3 | Chronic venous disease | 3.000000e-07 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C537469 | Microtia, meatal atresia and conductive deafness (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tretinoin | increases expression, affects cotreatment | 3 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol A | affects cotreatment, increases expression | 1 |
| terbufos | increases methylation | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cupric chloride | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| MRK 003 | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| 2,3,5-trichloro-6-phenyl-(1,4)benzoquinone | increases expression | 1 |
| Air Pollutants | affects methylation, increases abundance | 1 |
| Vehicle Emissions | increases abundance, affects methylation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Carmustine | decreases expression | 1 |
| Fonofos | increases methylation | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Nitrogen Dioxide | affects methylation, increases abundance | 1 |
| Parathion | increases methylation | 1 |
| Quercetin | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Triclosan | increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Asbestos, Crocidolite | decreases methylation | 1 |
| Asbestos, Amosite | decreases methylation | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: microtia with meatal atresia and conductive deafness
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): chronic venous insufficiency, hypospadias, microtia with meatal atresia and conductive deafness